An article was just released pre-publication on the Journal of Autism and Developmental Disorders. It’s not a report of an empirical study. Instead, it’s a letter to the editor of the journal written by Dr. Hari Manev and Dr. Radmila Manev from the University of Illinois. I never discuss letters to the editor on this blog, but this particular letter caught my attention. In this letter the authors present an interesting speculative suggestion of the possible role of some types of antibiotics in treating a specific type of autism. This is the basic argument:
- A number of studies have identified a mutation in the neurexin gene CNTNAP2. Not all cases of autism are related to this mutation, thus the label of Type 1 Autism was proposed by Dr. Stephan on the article “Unraveling Autism” published on the American Journal of Human Genetics (2008). Type 1 Autism would then refer to cases of autism that also have the gene mutation.
- This mutation results in a premature stop codon resulting in a non-functional CNTNAP2 protein. A stop codon is a genetic sequence that signals the end of the process of creating a protein.
- Some antibiotics, such as gentamicin and PTC124, have been shown to suppress the premature stop condons, thus preventing the specific protein deficits associated with such premature codons.
- It is theoretically possible that such antibiotics may suppress the actions of the premature codon in children with this type of autism, possibly leading to a normalization of the levels of protein related to CNTNAP2.

But would this lead to improved symptoms among children already with a full diagnosis? Or will the treatment only be effective before the CNTNAP2 mutation affects protein synthesis during early development, which would argue for early genetic testing? And of course, this assumes that indeed the CNTNAP2 mutation has a causative role in autism and is not simply a comorbid condition. We should note that none of these medications have been approved or studied as a possible treatment for “type 1” autism. Yet, the basic theoretical foundation is there to guide future research to examine the possible role of antibiotics in treating Type 1 autism.

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One Response to The possible future role of antibiotics as treatment of Type 1 Autism?

  1. RAJ says:

    “A number of studies have identified a mutation in the neurexin gene CNTNAP2. Not all cases of autism are related to this mutation, thus the label of Type 1 Autism was proposed by Dr. Stephan on the article “Unraveling Autism” published on the American Journal of Human Genetics (2008)”.

    Here is how the true believer in Behavioral Genetics continue to misrepresent the meaning of genetic findings in ‘autism’.

    Mutations in CNTNAP2 is not assoicated with ‘autism’. It is asociated with mental retardation, epilepsy, schizophrenia and ‘autism. Children who carry an ASD diagnosis simply meet enough isolated secondary symptoms to qualify for an ASD diagnosis.

    http://www.ncbi.nlm.nih.gov/pubmed/17646849?

    The same misdiagnosis is also observed in mentally retarded Fragile X boys whose social problems are social anxiety and shyness. Their social impairments do not remotely resemble the children Kanner described in 1943.

    http://www.ncbi.nlm.nih.gov/pubmed/8110411?

    The autism research community, now dominated by Behaioral Geneticists, continue to fail to differentiate ‘autism’ from other neurodevelopmental spectrum disorders, much of it explained by DSM-IV and ICD-10′s completly removing Kanners definition from diagnostic criteria for ‘autism’ in 1994.

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